BSCL2 defines the localization of adipose differentiation-related protein (show PLIN2 Antibodies), which has a role in lipid accumulation and adipogenic differentiation

BSCL2 mutations account for a small number of patients with inherited neuropathies in Taiwan. The p.R96H mutation is associated with distal hereditary motor neuropathy.

We confirmed reduction of brain volume and number of sperm in human patients with BSCL2 mutation. This is the first report demonstrating that seipin is necessary for normal brain development and spermatogenesis

The S90L mutationof BSCL2 is predominantly associated with Silver syndrome

The mutation of seipin at glycosylation sites disrupt its function in regulating lipid droplet metabolism, and the autophagy acts as an adaptive response to break down abnormal lipid droplets.

a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis.

A missense mutation was found in BSCL2 N88S, in a patient with Silver syndrome.

A homozygous and truncating mutation was identified in the BSCL2 gene suggesting congenital generalized lipodystrophy.

Using the lipodystrophic Seipin-deficient mouse (Seipin(-/-)) model, the study found Seipin(-/-) mice were unable to respond appropriately to a long time fasting and developed postprandial hypertriglyceridemia.

a brief overview of the genetic association of the CGLs, and focus on the current understanding of differential contributions of distinct seipin domains to lipid storage and adipogenesis.

New insights into the metabolic adaptations of liver in response to fasting and uncovered a novel fasting-dependent regulation of hepatic insulin (show INS Antibodies) signaling in a mouse model of human Berardinelli-Seip congenital lipodystrophy type 2.

other than being essential for adipocyte differentiation, Bscl2 is also important in fatty acid remodeling and energy homeostasis.

BSCL2 Antigen Profile

Protein Summary

This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).